Canonical Allele Identifier: CA397722386

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7123951T>G (hg19) ; chr17:g.7220632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220632T>G , CM000679.2:g.7220632T>G	GRCh38
NC_000017.10:g.7123951T>G , CM000679.1:g.7123951T>G	GRCh37
NC_000017.9:g.7064675T>G	NCBI36
NG_007975.1:g.5799T>G
NG_008391.2:g.4419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.233T>G MANE Select	ENSP00000349297.5:p.Phe78Cys
ENST00000322910.9:c.*188T>G	ENSP00000325395.5:n.*188T>G
ENST00000350303.9:c.167T>G	ENSP00000344152.5:p.Phe56Cys
ENST00000356839.9:c.233T>G	ENSP00000349297.5:p.Phe78Cys
ENST00000543245.6:c.302T>G	ENSP00000438689.2:p.Phe101Cys
ENST00000577191.5:n.310T>G
ENST00000577433.5:n.441T>G
ENST00000577857.5:n.229-134T>G
ENST00000578269.5:n.680T>G
ENST00000578421.1:n.441T>G
ENST00000579286.5:n.414T>G
ENST00000579886.2:c.201+106T>G	ENSP00000463246.1:n.201+106T>G
ENST00000580263.5:n.397T>G
ENST00000581562.5:n.280T>G
ENST00000582056.5:n.323T>G
ENST00000582166.1:n.121T>G
ENST00000582356.5:n.432T>G
ENST00000583312.5:c.233T>G	ENSP00000467920.1:p.Phe78Cys
ENST00000584103.5:c.233T>G	ENSP00000465353.1:p.Phe78Cys
NM_000018.3:c.233T>G	NP_000009.1:p.Phe78Cys
NM_001033859.2:c.167T>G	NP_001029031.1:p.Phe56Cys
NM_001270447.1:c.302T>G	NP_001257376.1:p.Phe101Cys
NM_001270448.1:c.5T>G	NP_001257377.1:p.Phe2Cys
XM_006721516.2:c.233T>G	XP_006721579.2:p.Phe78Cys
XM_011523829.1:c.233T>G	XP_011522131.1:p.Phe78Cys
XM_011523830.1:c.233T>G	XP_011522132.1:p.Phe78Cys
XR_934021.1:n.340T>G
XR_934022.1:n.340T>G
XR_934023.1:n.340T>G
XM_006721516.3:c.233T>G	XP_006721579.2:p.Phe78Cys
XM_011523829.2:c.233T>G	XP_011522131.1:p.Phe78Cys
XM_011523830.2:c.233T>G	XP_011522132.1:p.Phe78Cys
XM_024450741.1:c.233T>G	XP_024306509.1:p.Phe78Cys
XR_934021.2:n.292T>G
XR_934022.2:n.292T>G
XR_934023.2:n.292T>G
NM_000018.4:c.233T>G MANE Select	NP_000009.1:p.Phe78Cys
NM_001033859.3:c.167T>G	NP_001029031.1:p.Phe56Cys
NM_001270447.2:c.302T>G	NP_001257376.1:p.Phe101Cys
NM_001270448.2:c.5T>G	NP_001257377.1:p.Phe2Cys